ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 48 by Invitae

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 0.00009
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870 0.00006
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter) rs762066700 0.00004
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter) rs765332596 0.00001
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) rs751778396 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs) rs1562413480
NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)
NM_014855.3(AP5Z1):c.2079_2091del (p.Cys693fs)
NM_014855.3(AP5Z1):c.2079_2100del (p.Cys693_Pro694insTer) rs2115129514
NM_014855.3(AP5Z1):c.2079del (p.Gln696fs)
NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs) rs1562404571
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) rs1554257381
NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)
NM_014855.3(AP5Z1):c.704del (p.Asp235fs)
NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter) rs988434253
NM_014855.3(AP5Z1):c.868del (p.Arg290fs) rs756556933
NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter)

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